ClinVar Miner

List of variants in gene TSC1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 0.00022
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) rs751125011 0.00003
NM_000368.5(TSC1):c.1059T>C (p.Cys353=) rs1216537041 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000368.5(TSC1):c.1030-5C>T rs1588323218
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs) rs118203495
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu) rs118203565
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.2041+6_2041+7dup rs1845540759
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.558A>G (p.Ala186=) rs2132158268
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
NM_000368.5(TSC1):c.738-16T>C rs2132008163
NM_000368.5(TSC1):c.792_793dup (p.Asp265fs)

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